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The product of CLCN7 belongs to the CLC chloride channel family of proteins.
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In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (zeige CSF1 Antikörper) (MIOP) and identified mutations in four MIOP-related genes (CLCN7, TCIRG1 (zeige TCIRG1 Antikörper), SNX10 (zeige SNX10 Antikörper), and TNFRSF11A (zeige TNFRSF11A Antikörper)).
The present study revealed three novel mutations, showed the dense but brittle sclerotic bones of an autosomal dominant osteopetrosis (zeige CSF1 Antikörper) type II (OPTA2) patient, characterized OPTA2 symptoms from benign to fatal and reported a rare intermediate case of autosomal recessive 4 in a Chinese population.
we identified a CLCN7 mutation in a family with autosomal dominant osteopetrosis (zeige CSF1 Antikörper), RTA (zeige RBM9 Antikörper), renal stones, epilepsy, and blindness.
present findings suggest that the novel missense mutations V289L and A542V in the CLCN7 gene were responsible for autosomal dominant osteopetrosis (zeige CSF1 Antikörper) (type II) in the two Chinese families.
Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified.
The present study identified seven novel mutations of the CLCN7 gene and reported the first case of intermediate autosomal recessive osteopetrosis (zeige CSF1 Antikörper). with compound heterozygous mutation in the Chinese population.
study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene
the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene.
Results show that ClC-7 is strongly expressed in OUMS-27,a chondrocyte cell line and is responsible for Cl- current. Its downregulation during the hypoosmotic stress accompanying osteoarthritis progression is part of the complex etiology of the disease.
analysis demonstrates that CLCN7 and TCIRG1 (zeige TCIRG1 Antikörper) mutations differentially affect bone matrix mineralization, and that there is a need to modify the current classification of osteopetrosis (zeige CSF1 Antikörper)
a mouse with a different osteopetrosis-causing mutation (Clcn7(F318L)), is defined.
ClC-7 may affect tooth development by directly targeting tooth cells, and regulate tooth eruption through DFC mediated osteoclast pathway.
ClC-7 is essential for osteoclasts to resorb craniofacial bones to enable tooth eruption and root development.
ClC-7 deficiency impacts the development of the dentition and calvaria, but does not significantly disrupt amelogenesis.
ClC-7 does not appear to be crucially involved in gastric acid secretion, which explains the absence of an osteopetrorickets phenotype in CLCN7-related osteopetrosis (zeige CSF1 Antikörper).
Findings in this knockout mouse model prove that osteopetrotic compression of the brain is not responsible for neuronal and retinal degeneration in CLCN7-deficient mice; rather, they suggest that neurotoxicity is most likely due to lysosomal dysfunction.
Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of chloride channel 7 to lysosomes. [ClC7]
Chloride channel 7 (Clcn7) deficient mice bear a close resemblance to the progressive neuropathologic phenotype of neuronal ceroid lipofuscinosis.
study of mice with a point mutation converting ClC-7 into an uncoupled (unc) Cl-conductor; findings show only some roles of ClC-7 Cl-/H+ exchange can be taken over by a Cl- conductance
These experiments demonstrate that lysosomal pathology is a cell-autonomous consequence of ClC-7 disruption and that ClC-7 is important for lysosomal protein degradation.
accelerated ClC-7/Ostm1 (zeige OSTM1 Antikörper) gating per se is deleterious, highlighting a physiological importance of the slow voltage-activation of ClC-7/Ostm1 (zeige OSTM1 Antikörper) in lysosomal function and bone resorption
The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood.
H(+)/Cl(-) exchange transporter 7
, chloride channel 7 alpha subunit
, chloride channel protein 7
, protein phosphatase 1, regulatory subunit 63
, chloride channel 7
, H(+)/Cl(-) exchange transporter 7-like